Canonical Allele Identifier: CA338145553
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752524G>C , CM000663.2:g.7752524G>C GRCh38
NC_000001.10:g.7812584G>C , CM000663.1:g.7812584G>C GRCh37
NC_000001.9:g.7735171G>C NCBI36
NG_053148.1:g.972201G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1703G>C ENSP00000518174.1:p.Cys568Ser
ENST00000710285.1:c.2042G>C ENSP00000518175.1:p.Cys681Ser
ENST00000476864.2:c.4610G>C ENSP00000452319.2:p.Cys1537Ser
ENST00000495233.6:c.2271G>C
ENST00000700414.1:c.*4482G>C ENSP00000514978.1:n.*4482G>C
ENST00000700415.1:c.4541G>C ENSP00000514979.1:p.Cys1514Ser
ENST00000700417.1:c.4538G>C ENSP00000514981.1:p.Cys1513Ser
ENST00000700419.1:c.2795G>C ENSP00000514983.1:p.Cys932Ser
ENST00000700420.1:c.2000G>C ENSP00000514994.1:p.Cys667Ser
ENST00000700421.1:c.2021G>C ENSP00000514995.1:p.Cys674Ser
ENST00000700422.1:n.1123G>C
ENST00000700423.1:c.1703G>C ENSP00000514996.1:p.Cys568Ser
ENST00000700424.1:c.1703G>C ENSP00000514997.1:p.Cys568Ser
ENST00000700425.1:c.1661G>C ENSP00000514998.1:p.Cys554Ser
ENST00000700445.1:c.2295G>C
ENST00000700446.1:n.3345G>C
ENST00000700447.1:n.2629G>C
ENST00000700448.1:c.633G>C
ENST00000700449.1:c.153G>C
ENST00000303635.12:c.4949G>C MANE Select ENSP00000306522.6:p.Cys1650Ser
ENST00000303635.11:c.4949G>C ENSP00000306522.6:p.Cys1650Ser
ENST00000476864.1:c.641G>C ENSP00000452319.1:p.Cys214Ser
ENST00000490905.5:c.646G>C
ENST00000495233.5:c.1840G>C
NM_015215.3:c.4949G>C NP_056030.1:p.Cys1650Ser
XM_011541083.1:c.4970G>C XP_011539385.1:p.Cys1657Ser
XM_011541084.1:c.4970G>C XP_011539386.1:p.Cys1657Ser
XM_011541085.1:c.4958G>C XP_011539387.1:p.Cys1653Ser
XM_011541086.1:c.4949G>C XP_011539388.1:p.Cys1650Ser
XM_011541087.1:c.4898G>C XP_011539389.1:p.Cys1633Ser
XM_011541088.1:c.4880G>C XP_011539390.1:p.Cys1627Ser
XM_011541089.1:c.4631G>C XP_011539391.1:p.Cys1544Ser
XM_011541090.1:c.4631G>C XP_011539392.1:p.Cys1544Ser
NM_001349608.1:c.4859G>C NP_001336537.1:p.Cys1620Ser
NM_001349609.1:c.4631G>C NP_001336538.1:p.Cys1544Ser
NM_001349610.1:c.4625G>C NP_001336539.1:p.Cys1542Ser
NM_001349612.1:c.4541G>C NP_001336541.1:p.Cys1514Ser
NM_001349613.1:c.2078G>C NP_001336542.1:p.Cys693Ser
NM_001349614.1:c.2042G>C NP_001336543.1:p.Cys681Ser
NM_001349615.1:c.2042G>C NP_001336544.1:p.Cys681Ser
NM_001349616.1:c.2042G>C NP_001336545.1:p.Cys681Ser
NM_001349617.1:c.2021G>C NP_001336546.1:p.Cys674Ser
NM_001349618.1:c.2021G>C NP_001336547.1:p.Cys674Ser
NM_001349619.1:c.1703G>C NP_001336548.1:p.Cys568Ser
NM_001349620.1:c.1703G>C NP_001336549.1:p.Cys568Ser
NM_001349621.1:c.1703G>C NP_001336550.1:p.Cys568Ser
NM_001349622.1:c.1703G>C NP_001336551.1:p.Cys568Ser
NM_001349623.1:c.1682G>C NP_001336552.1:p.Cys561Ser
NM_001349624.2:c.1682G>C NP_001336553.1:p.Cys561Ser
NM_001349625.1:c.1682G>C NP_001336554.1:p.Cys561Ser
NM_001349626.1:c.1682G>C NP_001336555.1:p.Cys561Ser
XM_011541083.2:c.4970G>C XP_011539385.1:p.Cys1657Ser
XM_011541084.2:c.4970G>C XP_011539386.1:p.Cys1657Ser
XM_011541086.3:c.4949G>C XP_011539388.1:p.Cys1650Ser
XM_011541087.2:c.4898G>C XP_011539389.1:p.Cys1633Ser
XM_011541088.2:c.4880G>C XP_011539390.1:p.Cys1627Ser
XM_011541090.3:c.4631G>C XP_011539392.1:p.Cys1544Ser
XM_017000774.2:c.4970G>C XP_016856263.1:p.Cys1657Ser
XM_017000777.1:c.4610G>C XP_016856266.1:p.Cys1537Ser
XM_017000778.1:c.4610G>C XP_016856267.1:p.Cys1537Ser
XM_024454329.1:c.2231G>C XP_024310097.1:p.Cys744Ser
XM_024454330.1:c.2210G>C XP_024310098.1:p.Cys737Ser
XM_024454331.1:c.2042G>C XP_024310099.1:p.Cys681Ser
XM_024454332.1:c.2042G>C XP_024310100.1:p.Cys681Ser
XM_024454333.1:c.2042G>C XP_024310101.1:p.Cys681Ser
XM_024454334.1:c.2042G>C XP_024310102.1:p.Cys681Ser
XM_024454335.1:c.2042G>C XP_024310103.1:p.Cys681Ser
XM_024454338.1:c.1703G>C XP_024310106.1:p.Cys568Ser
NM_015215.4:c.4949G>C MANE Select NP_056030.1:p.Cys1650Ser
NM_001349608.2:c.4859G>C NP_001336537.1:p.Cys1620Ser
NM_001349609.2:c.4631G>C NP_001336538.1:p.Cys1544Ser
NM_001349610.2:c.4625G>C NP_001336539.1:p.Cys1542Ser
NM_001349612.2:c.4541G>C NP_001336541.1:p.Cys1514Ser
NM_001349615.2:c.2042G>C NP_001336544.1:p.Cys681Ser
NM_001349616.2:c.2042G>C NP_001336545.1:p.Cys681Ser
NM_001349618.2:c.2021G>C NP_001336547.1:p.Cys674Ser
NM_001349619.2:c.1703G>C NP_001336548.1:p.Cys568Ser
NM_001349622.2:c.1703G>C NP_001336551.1:p.Cys568Ser
NM_001349624.3:c.1682G>C NP_001336553.1:p.Cys561Ser
NM_001349626.2:c.1682G>C NP_001336555.1:p.Cys561Ser
NM_001349625.2:c.1682G>C NP_001336554.1:p.Cys561Ser